Non-Classic Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency that Developed into Symptomatic Severe Hyponatremia.

A 78-year-old woman diagnosed with non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency had been under glucocorticoid replacement therapy since the age of 17 years. After several weeks of suffering from gastroenteritis with vomiting, she presented with disturbance of consciousness, hypotension, dehydration, and severe hyponatremia (108 mEq/L) and a markedly increased serum vasopressin concentration (45.5 pg/mL). She regained consciousness after correcting her body-fluid balance with hypertonic saline and intravenous hydrocortisone sodium therapy. Her hyponatremia was likely caused by extra-renal sodium loss and impaired water excretion induced by an increase of serum vasopressin due to volume depletion and glucocorticoid deficiency.

Effectiveness of weekly percutaneous maxacalcitol injection therapy in patients with secondary hyperparathyroidism.

Percutaneous injection therapy with vitamin D has been applied in the treatment of hyperparathyroidism (HPT); however, the application of percutaneous injection therapy with vitamin D lacks established guidelines regarding the volume of injected solution and the frequency of injection. We have developed an outpatient treatment regimen using percutaneous maxacalcitol injection therapy (PMIT) on a weekly basis for 4-6 weeks following dialysis without major complications. Intact parathyroid hormone decreased from 797 +/- 178 pg/mL to 253 +/- 25 pg/mL, and the parathyroid gland volume initially increased during the first week, but thereafter, it gradually decreased with weekly PMIT (wPMIT). Finally, the parathyroid gland volume decreased from 1.27 +/- 1.06 cm(3) to 0.24 +/- 0.15 cm(3) after wPMIT. The benefits of our method were confirmed on weekly ultrasonographic examinations, which detailed the gradual reduction in gland size following an initial increase after the first injection. Therefore, we conclude that our carefully implemented PMIT method would be an effective treatment against refractory secondary HPT.

Analysis of mutations in alpha-actinin 4 and podocin genes of patients with chronic renal failure due to sporadic focal segmental glomerulosclerosis.

Although the pathogenesis of idiopathic focal segmental glomerulosclerosis (FSGS) may be heterogeneous, autosomal dominant and recessive forms of FSGS are recognized. Recently, mutations in alpha-actinin 4 (ACTN4) and podocin genes were reported in patients with such familial FSGS. However, whether mutations in ACTN4 and podocin genes are associated with sporadic FSGS has not been determined. In the present study, we clarified the relation between mutations in ACTN4 and podocin genes and sporadic FSGS. We analyzed these reported mutations in ACTN4 and podocin in five patients with chronic renal failure due to therapy-resistant FSGS by direct sequencing of polymerase chain reaction products of ACTN4 and podocin. We found a C to T transition at nucleotide 465 in the ACTN4 gene in all of patients, and a T to C transition at nucleotide 954 in exon eight of podocin gene in two of five patients, resulting in no amino acid substitutions. Other mutations were not found in ACTN4 and podocin genes. Our findings suggest that sporadic FSGS is a heterogeneous disease, since ACTN4 and podocin genes are not found in our patients with sporadic FSGS.